KEGG   VARIANT: 2737v1
Entry
2737v1                      Variant                                
Name
GLI3 mutation
Type
Loss of function
Gene
GLI3  transcriptional activator GLI3 [KO:K06230]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 165240
Network
nt06501  HH signaling
Disease
H00502  Pallister-Hall syndrome
H01852  Postaxial polydactyly
H02161  Greig cephalopolysyndactyly syndrome
H02332  Preaxial polydactyly
Reference
PMID:31781166
  Authors
Sasai N, Toriyama M, Kondo T
  Title
Hedgehog Signal and Genetic Disorders.
  Journal
Front Genet 10:1103 (2019)
DOI:10.3389/fgene.2019.01103
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